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目的评价多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)在染色体非整倍体诊断中的应用价值。方法应用MLPA技术检测了150例羊水标本、50例外周血标本,所有标本均进行常规染色体核型分析,应用Cof-falyser9.0MLPA-DATA数据分析软件获得MLPA结果,比对MLPA和染色体核型分析结果的准确性,评价两种技术的符合率,总结MLPA技术临床应用过程中的关键要点。结果MLPA扩增后探针信号强度与质控相比比率大于1.3判定为重复,小于0.7判定为缺失。150例羊水标本,MLPA显示非整倍体染色体数目异常14例,与羊水染色体培养核型分析结果相同;50例外周血标本,MLPA异常21例,与培养结果符合率100%。DNA质量和浓度是实验成败的关键,Coffalyser9.0MLPA-DATA数据分析软件可以实现MLPA数据处理通量化。结论MLPA技术用于普通的染色体非整倍体数目检测快速、特异、敏感,弥补了常规染色体培养周期长等缺点,对于大量的产前诊断羊水标本,可以实现高通量检测,具较高的临床应用价值。
Objective To evaluate the value of multiplex ligation-dependent probe amplification (MLPA) in the diagnosis of chromosomal aneuploidy. Methods MLPA technique was used to detect 150 cases of amniotic fluid samples and 50 cases of peripheral blood samples, all samples were routine karyotype analysis, using Cof-falyser 9.0MLPA-DATA data analysis software to obtain MLPA results, compared with MLPA and karyotype analysis The accuracy of the results, evaluation of the coincidence rate of the two technologies, summarizes the key points in the clinical application of MLPA technology. Results After amplification of MLPA, the ratio of probe signal intensity to quality control was more than 1.3 and was repeated, while less than 0.7 was judged as deletion. 150 cases of amniotic fluid specimens, MLPA showed aneuploidy chromosome number abnormalities in 14 cases, and amniotic fluid chromosome karyotype analysis results the same; 50 cases of peripheral blood samples, MLPA abnormalities in 21 cases, and the culture results in line with the rate of 100%. The quality and concentration of DNA is the key to the success of the experiment. The Coffalyser 9.0MLPA-DATA data analysis software enables MLPA data throughput. Conclusion The MLPA technique is rapid, specific and sensitive for the detection of common aneuploidy chromosomes. It can make up for the shortcomings of conventional chromosome culture such as long cycle time. For a large number of prenatal diagnosis of amniotic fluid samples, high-throughput detection can be achieved with high Clinical application value.